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Role of SURF1 in etiology of Leigh syndrome in Slovakia.
studies support the view that COX assembly is much more dependent on SURF1 in humans than in mice.
SURF1 mutations may be associated with worse clinical outcome in Chinese patients with Leigh syndrome than other populations.
the MT-ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses.
Mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth disease.
This study suggested that hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2
Study identified 21 patients with clinical features of Leigh syndrome who are either homozygous or compound heterozygous for SURF1 mutations.
Analysis of fibroblast cell lines from 9 patients with SURF1 mutations revealed a 70% decrease of the COX complex content to be associated with 32-54% upregulation of respiratory chain complexes I, III and V and accumulation of Cox5a subunit.
Analysis of mutations in the SURF1 homolog Shy1 revealed Coa4, a new member of the cytochrome oxidase assembly factor family.
mutations (574-575insCTGT, 311-321del10insAT and IVS8-1G>) were also frequent in the Russian population.
Three novel mutations of the SURF-1 gene were identified in Japanese patients with cytochrome c oxidase deficiency; loss of function of the SURF-1 protein; cytochrome c oxidase activity was decreased to less than 20% of the control mean.
new missense mutation of 574C>T in the SURF1 gene in Leigh's syndrome
Two novel pathogenic SURF1 mutations have been identified in a patient with Leigh syndrome.
Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the brain.
Four pathogenic mutations including a novel, in-frame, 15-bp tandem duplication (806-820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of Leigh Syndrome with cytochrome c oxidase deficiency
study points to a role for surfeit 1(SURF1) in promoting the association of cytochrome c oxidase II with the cytochrome c oxidase I.cytochrome c oxidase subunit 4.cytochrome c oxidase subunit 5A subassembly
a SURF1 mutation may have a role in subacute encephalopathy
Surf1p plays a role in facilitating the insertion of heme a3 into the active site of cytochrome-c oxidase.
The consequences of SCO2 and SURF1 mutations suggest the existence of tissue-specific functional differences of these proteins that may serve different tissue-specific requirements for the regulation of COX biogenesis.
Many proteins and metabolites are downregulated in Surf1(-/-) adipose tissue and reversed by Dietary restriction (DR), while in brain, most metabolites that changed were elevated in Surf1(-/-) mice.
Fibroblasts from Surf1(-/-) mice are significantly more resistant to cell death caused by oxidative stress induced by paraquat or tert-Butyl hydroperoxide compared to cells from wild-type mice. In contrast, Surf1(-/-) fibroblasts show no difference in sensitivity to hydrogen peroxide stress
These findings suggest that Surf1 deficiency-induced metabolic alterations may have positive effects on brain function.
The expression of peroxisome proliferator-activated receptor gamma-coactivator 1-alpha (PGC-1alpha) mRNA and protein was up-regulated in white adipose tissue from Surf1-/- mice, and the expression of PGC-1alpha target genes
Compared to wild type (WT) preparations Surf1 knockout preparations had a higher baseline respiratory frequency and abnormal responses to hypoxia and hypercapnia that involved both respiratory frequency and motor nerve discharge pattern.
murine Surf1 protein (Surf1p) has a function specifically related to cytochrome c oxidase
Prolonged lifespan and complete protection from Ca(2+)-dependent neurotoxicity induced by kainic acid in Surf-1 knockout mice.
This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency.
, surfeit 1
, surfeit locus protein 1
, surfeit protein